List of variants studied for Griscelli syndrome type 2 by OMIM

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_183235.3(RAB27A):c.550C>T (p.Arg184Ter)	rs200956636	0.00006
NM_183235.3(RAB27A):c.598C>T (p.Arg200Ter)	rs757849893	0.00001
NC_000015.9:g.55514530_55552423dup
NG_009103.1:g.(13486_?)_(?_81610)del
NM_183235.3(RAB27A):c.136T>A (p.Phe46Ile)	rs2140989874
NM_183235.3(RAB27A):c.217T>G (p.Trp73Gly)	rs28938176
NM_183235.3(RAB27A):c.239+3A>G	rs1595695268
NM_183235.3(RAB27A):c.259G>C (p.Ala87Pro)	rs104894497
NM_183235.3(RAB27A):c.352C>T (p.Gln118Ter)	rs104894500
NM_183235.3(RAB27A):c.389T>C (p.Leu130Pro)	rs104894498
NM_183235.3(RAB27A):c.400A>G (p.Lys134Glu)	rs2140958637
NM_183235.3(RAB27A):c.454G>C (p.Ala152Pro)	rs104894499
NM_183235.3(RAB27A):c.467+1G>C	rs756071120
NM_183235.3(RAB27A):c.467+5G>A	rs2140958268
NM_183235.3(RAB27A):c.53_54del (p.Ser18fs)	rs1595700039

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